Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

• Published in: Journal of clinical immunology Vol. 40; no. 1; pp. 24 - 64
• Main Authors: Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Ochs, Hans D., Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Torgerson, Troy R., Casanova, Jean-Laurent, Sullivan, Kathleen E.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.01.2020; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Defects; Immunity; Immunology; Infectious Diseases; Internal Medicine; Medical Microbiology; Molecular modelling; Next-generation sequencing; Original; Original Article; Phenotypes; Primary immunodeficiencies; autoinflammatory disorders; inborn errors of immunity; IUIS; next-generation sequencing; primary immune deficiency; immune dysregulation

We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects th...